日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autozygome and high throughput confirmation of disease genes candidacy

纯合子和高通量疾病基因候选确认

Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A; Kayyali, Husam R; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I; Balobaid, Ameera; El Khashab, Heba Y; Bubshait, Dalal K; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; Qari, Alya; Al Tala, Saeed M; Alhomaidi, Suzan; Kentab, Amal Y; Salih, Mustafa A; Chedrawi, Aziza; Alameer, Seham; Tabarki, Brahim; Shamseldin, Hanan E; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous; Samira, Menasria; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; AlShahwan, Saad; Alfadhel, Majid; Ben-Omran, Tawfeg; Al-Qattan, Mohammad M; Monies, Dorota; Alkuraya, Fowzan S

Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.

K(+)通道Kir4.1 (KCNJ10)和SLACK (KCNT1)的致命双基因突变与严重的致残性癫痫和神经发育迟缓有关

Hasan Sonia, Balobaid Ameera, Grottesi Alessandro, Dabbagh Omar, Cenciarini Marta, Rawashdeh Rifaat, Al-Sagheir Afaf, Bove Cecilia, Macchioni Lara, Pessia Mauro, Al-Owain Mohammed, D'Adamo Maria Cristina

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

在沙特阿拉伯52名枫糖尿症患者队列中,发现了BCKDHA、BCKDHB和DBT基因的20个新突变。

Imtiaz, Faiqa; Al-Mostafa, Abeer; Allam, Rabab; Ramzan, Khushnooda; Al-Tassan, Nada; Tahir, Asma I; Al-Numair, Nouf S; Al-Hamed, Mohamed H; Al-Hassnan, Zuhair; Al-Owain, Mohammad; Al-Zaidan, Hamad; Al-Amoudi, Mohammad; Qari, Alya; Balobaid, Ameera; Al-Sayed, Moeenaldeen

Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia

沙特阿拉伯遗传咨询师的执业范围及遗传咨询服务面临的挑战

Balobaid, Ameera; Qari, Alya; Al-Zaidan, Hamad